Publications

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2021
Martorell-Marugán J, López-Domínguez R, García-Moreno A, et al. A comprehensive database for integrated analysis of omics data in autoimmune diseases. BMC Bioinformatics. 2021;22(1):343. doi:10.1186/s12859-021-04268-4.
Peña-Chilet M, Roldán G, Perez-Florido J, et al. CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021;49(D1):D1130-D1137. doi:10.1093/nar/gkaa794.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.
Moura DS, Peña-Chilet M, Varela JAntonio Co, et al. A DNA damage repair gene-associated signature predicts responses of patients with advanced soft-tissue sarcoma to treatment with trabectedin. Mol Oncol. 2021. doi:10.1002/1878-0261.12996.
Walsh I, Fishman D, Garcia-Gasulla D, et al. DOME: recommendations for supervised machine learning validation in biology. Nat Methods. 2021. doi:10.1038/s41592-021-01205-4.
Rian K, Hidalgo MR, Cubuk C, et al. Genome-scale mechanistic modeling of signaling pathways made easy: A bioconductor/cytoscape/web server framework for the analysis of omic data. Computational and Structural Biotechnology Journal. 2021;19:2968 - 2978. doi:10.1016/j.csbj.2021.05.022.
Villalba-Benito L, López-López D, Torroglosa A, et al. Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system developmentAbstractBackgroundResultsConclusionsGraphic abstract. Clinical Epigenetics. 2021;13(1). doi:10.1186/s13148-021-01040-6.
Dopazo J, Maya-Miles D, García F, et al. Implementing Personalized Medicine in COVID-19 in Andalusia: An Opportunity to Transform the Healthcare System. J Pers Med. 2021;11(6). doi:10.3390/jpm11060475.
Torrent-Vernetta A, Gaboli M, Castillo-Corullón S, et al. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain. Archivos de Bronconeumología. 2021. doi:10.1016/j.arbres.2021.06.001.
Rian K, Esteban-Medina M, Hidalgo MR, et al. Mechanistic modeling of the SARS-CoV-2 disease map. BioData Min. 2021;14(1):5. doi:10.1186/s13040-021-00234-1.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Casimiro-Soriguer CS, Perez-Florido J, Fernandez-Rueda JL, et al. Phylogenetic Analysis of the 2020 West Nile Virus (WNV) Outbreak in Andalusia (Spain). Viruses. 2021;13(5):836. doi:10.3390/v13050836.
Tenorio-Castaño J, Morte B, Nevado J, et al. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
Méndez-Salazar EOrlando, Vázquez-Mellado J, Casimiro-Soriguer CS, et al. Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism. Mol Med. 2021;27(1):50. doi:10.1186/s10020-021-00311-5.
Zhang Z, Hernandez K, Savage J, et al. Uniform genomic data analysis in the NCI Genomic Data CommonsAbstract. Nature Communications. 2021;12(1). doi:10.1038/s41467-021-21254-9.
Garrido-Rodriguez M, López-López D, Ortuno FM, et al. A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PLoS Comput Biol. 2021;17(2):e1008748. doi:10.1371/journal.pcbi.1008748.
2020
Golubnitschaja O, Topolcan O, Kucera R, Costigliola V. 10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020. EPMA J. 2020:1-133. doi:10.1007/s13167-020-00206-1.
Díez-Fuertes F, De La Torre-Tarazona HE, Calonge E, et al. Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals. Clin Microbiol Infect. 2020;26(1):107-114. doi:10.1016/j.cmi.2019.05.015.
Yang M, Petralia F, Li Z, et al. Community Assessment of the Predictability of Cancer Protein and Phosphoprotein Levels from Genomics and Transcriptomics. Cell Syst. 2020;11(2):186-195.e9. doi:10.1016/j.cels.2020.06.013.
Ostaszewski M, Mazein A, Gillespie ME, et al. COVID-19 Disease Map, building a computational repository of SARS-CoV-2 virus-host interaction mechanisms. Sci Data. 2020;7(1):136. doi:10.1038/s41597-020-0477-8.
Loucera C, Esteban-Medina M, Rian K, Falco MM, Dopazo J, Peña-Chilet M. Drug repurposing for COVID-19 using machine learning and mechanistic models of signal transduction circuits related to SARS-CoV-2 infection. Signal Transduct Target Ther. 2020;5(1):290. doi:10.1038/s41392-020-00417-y.
Salgado D, Armean IM, Baudis M, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Res. 2020;9. doi:10.12688/f1000research.24887.1.
Salgado D, Armean IM, Baudis M, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Research. 2020;9:1229. doi:10.12688/f1000research10.12688/f1000research.24887.1.
Palomero L, Galván-Femenía I, de Cid R, et al. Immune Cell Associations with Cancer Risk. iScience. 2020;23(7):101296. doi:10.1016/j.isci.2020.101296.
García-León FJavier, Villegas-Portero R, Goicoechea-Salazar JAntonio, Muñoyerro-Muñiz D, Dopazo J. [Impact assessment on data protection in research projects]. Gac Sanit. 2020;34(5):521-523. doi:10.1016/j.gaceta.2019.10.006.